Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Bioinformatics, |
RCV000059553 | SCV000221859 | pathogenic | Severe myoclonic epilepsy in infancy | 2014-12-20 | criteria provided, single submitter | research | |
DASA | RCV000059553 | SCV002526397 | likely pathogenic | Severe myoclonic epilepsy in infancy | 2022-06-10 | criteria provided, single submitter | clinical testing | The c.777C>A;p.(Ser259Arg) missense change has been observed in affected individual(s) and ClinVar contains an entry for this variant (Clinvar ID: 68673; PMID: 20431604; 30735520) - PS4.Well-established in vitro or in vivo functional studies supportive of a damaging effect on the gene or gene product (PMID: 30735520) - PS3_supporting. This variant is not present in population databases:rs121918735 , gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. The variant was assumed de novo, but without confirmation of paternity and maternity (PMID: 20431604; 30735520)PM6. In summary, the currently available evidence indicates that the variant is Likely Pathogenic |
Uni |
RCV000059553 | SCV000091085 | not provided | Severe myoclonic epilepsy in infancy | no assertion provided | not provided | ||
Clinical Molecular Genetics Laboratory, |
RCV000678837 | SCV000805026 | pathogenic | Seizure | 2017-08-14 | no assertion criteria provided | clinical testing |